Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Atypical presentation of distal renal tubular acidosis in two siblings.

Pediatric nephrology (Berlin, Germany) - 1 Jul 2008

Tasic Velibor, Korneti Petar, Gucev Zoran, Hoppe Bernd, Blau Nenad, Cheong Hae Il

Abstract excerpt

Primary distal renal tubular acidosis (dRTA) is an inherited disease characterized by the inability of the distal tubule to lower urine pH <5.50 during systemic acidosis. We report two male siblings who presented with severe hyperchloremic metabolic acidosis, high urinary pH, nephrocalcinosis, growth retardation, sensorineural hearing loss, and hypokalemic paralysis. Laboratory investigations revealed proximal...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Acidosis, Renal Tubular
Share to Chlorides
Share to Hypokalemia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney Tubules, Proximal

Share to Paralysis

Share to Rhabdomyolysis

Share to Uric Acid

Share to Vacuolar Proton-Translocating ATPases

Source

Identifiers

PMID: 18386070
DOI: 10.1007/s00467-008-0796-z

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Atypical presentation of distal renal tubular acidosis in two siblings.PMID 18386070Read ↗

Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis.Semantic proximity Read ↗

Mutations and clinical characteristics of dRTA caused by SLC4A1 mutations: Analysis based on published patientsSemantic proximity Read ↗

Novel compound heterozygous ATP6V0A4 mutations in an infant with distal renal tubular acidosis.Semantic proximity Read ↗

Hearing Loss Related to Gene Mutations in Distal Renal Tubular Acidosis.Semantic proximity Read ↗

Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations.Semantic proximity Read ↗

Renal tubular acidosisSemantic proximity Read ↗

Homozygous and compound heterozygous mutations in the ATP6V1B1 gene in patients with renal tubular acidosis and sensorineural hearing loss.Semantic proximity Read ↗

Clinical phenotype, family segregation, and follow-up of pediatric distal renal tubular acidosis associated with a homozygous SLC4A1 p.G701D variantSemantic proximity Read ↗

Hereditary distal renal tubular acidosis: new understandings.Semantic proximity Read ↗

Clinical and molecular aspects of distal renal tubular acidosis in children.Semantic proximity Read ↗

Hypokalemic Distal Renal Tubular Acidosis.Semantic proximity Read ↗

Clinical Features and Unusual Heterozygous Mutations in Patients with Renal Hypokalemia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.